Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RASA3_chr13_113972783_114137623	114073517	A A	AGGAAAAT others(389): Show AGGAAAATGGGACGGTGACGTACACGCTCGGGACATTGTCTACGCACAGA AAAATTCCCTACACGCGGGAAAACGGGACGGTGACGTACACGCTCGGGAC ATTGTCTACGCACAGAAAAATTCCCTACACATGGGAAAATGGGACGGTGA TGTACATGCTTGGGACACTGTCTACACACAGAAAGATTCCCTACACGCGG GAAAATGGGACGGTGACGTACACGCTCGGGACATTGTCTACGCACAGAAA AATTCCCTACACATGGGAAAATGGGACGGTGATGTACATGCTTGGGACAC TGTCTACACACAGAAAAATTCCCTACACGCAGGAAAATGGGACGGTGACG TACACGCTCGGGACATTGTCTACGCACAGAAAAATTCCCTACACGCG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01981.hp1 NA18945.hp2 others(4): Show HG01943.hp1 HG01981.hp1 NA18945.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0044 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0060 a0001c0001t0002g0032 a0001c0001t0007g0033 a0001c0002t0002g0036	7	21	0.3333	396	c.173 others(411): Show c.173+202_173+203insCGCGTGTAGGGAATTTTTCTGTGCGTAGAC AATGTCCCGAGCGTGTACGTCACCGTCCCATTTTCCTGCGTGTAGGGAAT TTTTCTGTGTGTAGACAGTGTCCCAAGCATGTACATCACCGTCCCATTTT CCCATGTGTAGGGAATTTTTCTGTGCGTAGACAATGTCCCGAGCGTGTAC GTCACCGTCCCATTTTCCCGCGTGTAGGGAATCTTTCTGTGTGTAGACAG TGTCCCAAGCATGTACATCACCGTCCCATTTTCCCATGTGTAGGGAATTT TTCTGTGCGTAGACAATGTCCCGAGCGTGTACGTCACCGTCCCGTTTTCC CGCGTGTAGGGAATTTTTCTGTGCGTAGACAATGTCCCGAGCGTGTACGT CACCGTCCCATTTTCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79555423	G G	GATAGTGA others(389): Show GATAGTGATGGCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAG TGATGGTGGTGATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTG ATGGTGATGATGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAAC GGTGGTGATAATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAA TGGTGATCATGTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTG GTGATGGTGGTGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGAT TATGATAGTAGTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGA TGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0112 a0001c0001t0006g0112	1	150	0.0067	396	c.-32 others(417): Show c.-320+55402_-320+55403insTATCACTATTATCACCACCGTTAC CACCACCACTGCCATCACCACCATCATCGCCATTATCACCATTACCATTG CCATCACCATCACTACTATCATAATCACCCTCACCGCCATCACTGCCATC ATCACCATTGCCACCACCATCACCACCATCATTACTATCATCACCACCAC CACCATCACTGACATGATCACCATTACCACCACCACCACTGCCGTCACCA CCATTATCACTATTATCACCACCGTTACCACCACCACTGCCATCACCACC ATCATTACTATCATCATCACCATCACCACCATCATCGCCATTATCACCAT TACCATCGCCATCACCACCATCACTACTCTCATAATCACCATCACTGCCA TCATCACCATTGCCATCACTAT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(389): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTGTATG CATACATATGTATGTGTATGCATACGTATGTATGTATGTGTATACATACG TATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTA TGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACGTATG TATGTGTATACATACGTATGTATGTGTATACATACATACGTATGTATGTG TATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTACACA TACGTATGTATGTGTACACATACATATGTATGTATGTGTACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	324	0.0031	396	c.-23 others(407): Show c.-2310_-2309insGTATGTGTACACATACATACATATGTATGTGTAC ACATACATACGTATGTGTACACATACATACGTATGTATGTATACACATAC ATACGTATGTATACACATACATACGTATGTATGTATACACATACATACGT ATGTATACACATACATACGTATGTATGTATACACATACATACGTATGTAT ACACATACATACATACGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGTATACACATACATACATACGTATGCATACAC ATACATATGTATGCATACACATACATATGTATGCATACACATACATATGT ATGCATACACATACATATGTATGCATACACATACATATGTATGCATACAC ATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(389): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTACACATACATACGTATGTATGTGTA CACATACGTATGTATGTGTACACATACATACGTATGTATGTGTACACATA CGTATGTATGTGTACACATACATACGTATGTATGTGTACACATACGTATG TATGTGTACACATACATACGTATGTATGTGTACACATACGTATGTATGTG TACACATACATATGTATGTATGTGTACACATACGTATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0015 a0001c0001t0006g0015	1	377	0.0027	396	c.-23 others(407): Show c.-2328_-2327insGTACACATACATACGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTGTACACATACATACGTATGTGTACACATACATACGTATGTATGTGT ACACATACATACGTATGTGTACACATACATACGTATGTATGTGTACACAT ACATACGTATGTGTACACATACATACGTATGTATGTGTACACATACATAC GTATGTATACACATACATACATACGTATGTATACACATACATACATACGT ATGTATACACATACATACATACGTATGTATACACATACATACATACGTAT GCATACACATACATATGTATGCATACACATACATATGTATGCATACACAT ACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759523	G G	GTATGTGT others(389): Show GTATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTGTAT GCATACATATGTATGTATGTGTATACATACGTATGTATGTATGTGTATAC ATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACAT ACGTATGTATGTATGTGTACACATACGTATGTATGTGTACACATACATAC GTATGTATGTGTACACATACGTATGTATGTGTACACATACATACGTATGT ATGTGTACACATACGTATGTATGTGTACACATACATACGTATGTATGTGT ACACATACGTATGTATGTGTACACATACATACGTATGTATGTGTACACAT ACGTATGTATGTGTACACATACATATGTATGTATGTGTACACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	347	0.0029	396	c.-23 others(407): Show c.-2339_-2338insTGTATGTGTACACATACATACATATGTATGTGTA CACATACATACGTATGTGTACACATACATACGTATGTATGTGTACACATA CATACGTATGTGTACACATACATACGTATGTATGTGTACACATACATACG TATGTGTACACATACATACGTATGTATGTGTACACATACATACGTATGTG TACACATACATACGTATGTATGTGTACACATACATACGTATGTGTACACA TACATACATACGTATGTATACACATACATACATACGTATGTATACACATA CATACATACGTATGTATACACATACATACATACGTATGTATACACATACA TACATATGTATGCATACACATACATATGTATGCATACACATACATATGTA TGCATACACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2114		chr3	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTAGATAG others(389): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	194	0.0052	396	c.22 others(407): Show c.2236_*2237insTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTAGATAG others(389): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	194	0.0052	396	c.22 others(407): Show c.2236_*2237insTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RPA3_chr7_7631518_7723607	7679372	T T	TACATGTT others(389): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATACATGTTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	85	0.0118	396	c.-75 others(415): Show c.-758+6457_-758+6458insTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAACTAAATATATA AATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAACATGTATCTATAAACTAAATATAT AAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATA AACTAAATATATAAACATGT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	288087	T T	TCTCTCCA others(389): Show TCTCTCCACCGTCAGACCTCGCACGCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC ACTCCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACC GTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCA CCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTC TCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACTCC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0058 a0001c0001t0037g0058	1	128	0.0078	396	c.352 others(413): Show c.352-6234_352-6233insGGAGTGAGGTCTGACGGTGGAGAGAGGG TGCGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAG AGGGAGTGAGGTCTGACGGTGGAGAGAGGGTGTGAGGTCTGACGGTGGAG AGAGGGAGTGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGT GGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGAGGGAGTGAGGTCTGA CGGTGGAGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGGTGCGAGGT CTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAG GTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGCGTGCG AGGTCTGACGGTGGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340478	C C	CCGGGCTC others(389): Show CCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCGGGCTCAGGCCT CCCCACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACAC TCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCTC CCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCAC GTCCACACTCACTGCCCTGGGCCCAGGCCTCCCCACATCCACACTCACTG CCCTGGGCCCAGGCCTCCCCACGTCCACACTCACTGCCCTGGGCCCAGGC CTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCAC ACTCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0122 a0001c0003t0030g0122	1	64	0.0156	396	c.-21 others(415): Show c.-212-6545_-212-6544insAGGCAGTGAGTGTGGATGTGGGGAGG CCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGC AGTGAGTGTGGATGTGGGGAGGCCTGGGCCCAGGGCAGTGAGTGTGGACG TGGGGAGGCCTGGGCCCAGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGG CCCAGGGCAGTGAGTGTGGACGTGGGGAGGCCTGGGTGGGGGGCAGTGAG TGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGATGTGGGGA GGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGG GCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGA TGTGGGGAGGCCTGAGCCCG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80700730	A A	ATGATAGA others(389): Show ATGATAGAGATGGTGATGGTGGTGATGATGATGGTCGTGGTGATGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAGAGATGATGGTGA TGGTGATGATGGAGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTG ATGATGGTGATGGTGATGGTAGAGATGATGGTGATGATGGAGGTGGTGGT GATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGATGG TGACGGTGATGGTAGAGATGATAGTGATAGTGGTGGTGATGATGGTGGTG ATGGTGGTGGTGGTGATGATGGTGATGGTAGAGATGGTGGTGGTGGTGGT GGTGATGATGGTGACGGTGATGGTAGAGATGATGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0077 a0001c0077	a0001c0077t0086 a0001c0077t0086	a0001c0077t0086g0195 a0001c0077t0086g0195	1	8	0.1250	396	c.349 others(413): Show c.349-7107_349-7106insAGAGATGGTGATGGTGGTGATGATGATG GTCGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTAGAGATGATGGTGATGGTGATGATGGAGGTGATGGTGGTGATGGTGA TGGTGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGATGGTG ATGATGGAGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGGTGGT GGTGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATAGTGATAGTGG TGGTGATGATGGTGGTGATGGTGGTGGTGGTGATGATGGTGATGGTAGAG ATGGTGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGATGAT GGTGGTGGTGGTGGTGAT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743929	C C	CCCTGGCT others(389): Show CCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGCTACTAGC AGAGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTAC GAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGG TTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTA GCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0083 a0001c0083	a0001c0083t0028 a0001c0083t0028	a0001c0083t0028g0158 a0001c0083t0028g0158	1	170	0.0059	396	c.655 others(415): Show c.655-10076_655-10075insCTACTAGCACTATCCTGGTTACTAGC ACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCAGAGCCCTGGTTAC TAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGG CTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTA GCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCT GGCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744007	T T	TTACTAGC others(389): Show TTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGTAC AGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT GCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTGCTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0156 a0001c0003t0001g0156	1	149	0.0067	396	c.655 others(413): Show c.655-9994_655-9993insTGTCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAG CCCTGGTTACTAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCC CTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC TATCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744361	T T	TCCTGGCT others(389): Show TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0134 a0001c0019t0003g0134	1	172	0.0058	396	c.655 others(413): Show c.655-9644_655-9643insCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTA GCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744487	C C	CCCTGGCT others(389): Show CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC GAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTA GCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACGAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0054 a0001c0008t0054	a0001c0008t0054g0169 a0001c0008t0054g0169	1	154	0.0065	396	c.655 others(413): Show c.655-9500_655-9499insCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACGA GCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC GAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG CTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744515	G G	GAGCACAG others(389): Show GAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0034 a0001c0014t0034	a0001c0014t0034g0071 a0001c0014t0034g0071	1	77	0.0130	396	c.655 others(413): Show c.655-9482_655-9481insTTACGAGCACTGTCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(389): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGAGGG GGAGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGG GGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAGGAGAA GAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAAGGAGG AGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAG GAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18999.hp2 NA20752.hp1 HG00408.hp2 NA18999.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0213 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0213	3	4	0.7500	396	c.807 others(413): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTC CCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCT CCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCT CCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCCCCT CCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SAMD12_chr8_118372984_118626963	118469523	A A	ACTATATA others(389): Show ACTATATATCATATCATTATATATAATATATATTATATATATATATATAT ATAATATATTATAATATAATATAATAATATATAATATATAATATATAATA TATTATATATAATATATATAATATATCTATTATATATAATATATAATATA TATATTATTATATAATATATAATATATATATATATAATATATATTATATA TAATATATATTATAATATAATATATATATTATATTATATATAATATATAT TATATATTATATATATTATATATAATATATATTATATGTTATATATAATA TATAAATATATATTATATATAATATATTAATATATATTATATATAATATA TTATATATTATATATAATATATATTATATATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	186	0.0054	396	c.193 others(415): Show c.193-29563_193-29562insATATATAATATATATTATATATAATA TATATTATATATAATATATAATATATTATATATAATATATATTAATATAT TATATATAATATATATTTATATATTATATATAACATATAATATATATTAT ATATAATATATATAATATATAATATATATTATATATAATATAATATATAT ATTATATTATAATATATATTATATATAATATATATTATATATATATATAT TATATATTATATAATAATATATATATTATATATTATATATAATAGATATA TTATATATATTATATATAATATATTATATATTATATATTATATATTATTA TATTATATTATAATATATTATATATATATATATATATAATATATATTATA TATAATGATATGATATATAG	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(389): Show TTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGG GTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGG TTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTTG GGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAG TGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTG GGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	136	0.0074	396	c.464 others(409): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGA GTGAGGGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(389): Show ATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATA GGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0058 a0001c0003t0002g0058	1	337	0.0030	396	c.101 others(415): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGT TAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGATGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431952	G G	GGTGGAGA others(389): Show GGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGG ATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGATGGACAGGGTGGATAGGGTGGAGAGGGTGGA GAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGTTAGGGTGGTTA GGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0195 a0001c0004t0010g0195	1	373	0.0027	396	c.101 others(415): Show c.1014-1011_1014-1010insAGAGGGTGGATAGGGTGGATAGGGTG GAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGACAGGGTGG ATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGAGAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTT AGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGT GGATAGGGTGGTTAGAGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432012	T T	TAGGGTGG others(389): Show TAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGG TTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0004 a0002c0011t0001g0004	2	279	0.0072	396	c.101 others(413): Show c.1014-947_1014-946insTAGGGTGGAGAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTA GGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGG GTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA GAGGGTGGAGAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3TC1_chr4_8194290_8246103	8230028	C C	CGAGGATC others(389): Show CGAGGATCATGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTCGAGGAG ACCGGGGGCCAGGGGACGAGGATCATGCTTCCCTGTCTCCCCACCCCGCG TTGAACAGTCGAGGAGACCGGGGGCCAGGGGATGAGGATCATGCTTCCCT GTCTCCCCACCCCGCGTTGAACAGTCGAGGAGACCGGGGGCCAGGGGACG AGGATCATGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTCGAGGAGAC CGGAGGCCAGGGGATGAGGATCATGCTTCCCTGTCTCCCCACCCCGCGTT GAACAGTCGAGGAGACCGGGGGCCAGGGGATGAGGATCATGCTTCCCTGT CTCCCCACCCCGCGTTGAACAGTCGAGGAGACCGGAGGCCAGGGGAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0273 a0001c0009t0002g0273	1	294	0.0034	396	c.295 others(415): Show c.2950+1430_2950+1431insGAGACCGGGGGCCAGGGGACGAGGAT CATGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTCGAGGAGACCGGGG GCCAGGGGATGAGGATCATGCTTCCCTGTCTCCCCACCCCGCGTTGAACA GTCGAGGAGACCGGGGGCCAGGGGACGAGGATCATGCTTCCCTGTCTCCC CACCCCGCGTTGAACAGTCGAGGAGACCGGAGGCCAGGGGATGAGGATCA TGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGTCGAGGAGACCGGGGGC CAGGGGATGAGGATCATGCTTCCCTGTCTCCCCACCCCGCGTTGAACAGT CGAGGAGACCGGAGGCCAGGGGATGAGGATCATGCTTCCCTGTCTCCCCA CCCCGCGTTGAACAGTCGAG	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1061220	A A	ACCGCACC others(389): Show ACCGCACCCGCCGTGCGGGACCCCTGCGTCTCACCCACCGCACCTGCCGT GCAGGATCCCTGAGTCTCACCCGCCACACCCGCCGTGCGGGATCCCTGAG TCTCACCCACCGCACCCGCCGTGCGGGACCCCTGCGTCTCACCCACCGCA CCCGCCGTGCGGGACCCCTGCGTCTCACCCACCGCACCCGCCGTGCGGGA TCCCTGCGTCTCACCCACCGCACCCGCCGTGCGGGACCCCTGCGTCTCAC CCACCGCACCTGCCGTGCAGGATCCCTGAGTCTCACCCGCCACACCCGCC GTGCGGGATCCCTGAGTCTCACCCACCGCACCCGCCGTGCGGGACCCCTG CGTCTCACCCACCGCACCCGCCGTGCGGGATCCCTGAGTCTCACCCG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0071 a0001c0003t0003g0071	1	78	0.0128	396	c.274 others(413): Show c.2740-770_2740-769insCGGGTGAGACTCAGGGATCCCGCACGGC GGGTGCGGTGGGTGAGACGCAGGGGTCCCGCACGGCGGGTGCGGTGGGTG AGACTCAGGGATCCCGCACGGCGGGTGTGGCGGGTGAGACTCAGGGATCC TGCACGGCAGGTGCGGTGGGTGAGACGCAGGGGTCCCGCACGGCGGGTGC GGTGGGTGAGACGCAGGGATCCCGCACGGCGGGTGCGGTGGGTGAGACGC AGGGGTCCCGCACGGCGGGTGCGGTGGGTGAGACGCAGGGGTCCCGCACG GCGGGTGCGGTGGGTGAGACTCAGGGATCCCGCACGGCGGGTGTGGCGGG TGAGACTCAGGGATCCTGCACGGCAGGTGCGGTGGGTGAGACGCAGGGGT CCCGCACGGCGGGTGCGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(389): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGGCGGGGGGGCGGGAGGGGC GGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGGCGGG AGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGG GGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	25	0.0400	396	c.914 others(415): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCCCGCCCCCCCC GCGTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCG CCCCCCCCGCCTCCTTCCCCTCCCGCCCCCCCCGCCTCCCCCCTCCCGCC CCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCCGC CTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCC CCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCC GCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTC CTCCCCCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(389): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGGCGGCAGGGGGGAGGCG GGGGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGG GGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGG CGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGG GGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	25	0.0400	396	c.914 others(415): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCC TCCCCCTCCGGCCCCCTCCCGCCCCCCCCGCCTCCCCCCTCCCGCCCCCC CGCCTCCTCCCCCTCCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCC GCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGC CTCCTCCCCTCCCGCCCCCCCCGCCTCCCCCCTGCCGCCCCCCCCGCCTC CTCCCCCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(389): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCACCTCCTCCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCT CCACCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03516.hp1 HG03130.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0027 a0002c0002t0003g0028	2	90	0.0222	396	c.688 others(413): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCACCT CCTCCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCCACCTCC TCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC25A21_chr14_36672921_37177606	36810878	A A	AAGAAAAG others(389): Show AAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGG GGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGC ATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAA AGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAAT AATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGA TAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTG GGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCA GCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01169.hp2 NA19002.hp1 HG01074.hp2 HG01169.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0004 a0001c0001t0003g0104 a0001c0001t0007g0023 a0001c0001t0003g0004 a0001c0001t0003g0104 a0001c0001t0007g0023	3	40	0.0750	396	c.203 others(413): Show c.203+3039_203+3040insCTATCATATGCTGAATTATTTCCCCCAC TCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCA TATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATT TCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTT CTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCT GAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCC ACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTAT CATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTA TTTCCCCCACTCTTTTCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(389): Show ATATGTACATATGTACATATATACATATGTATATATACATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT ATACATATGTATATATGCATATATGTACATATGTACATATATACATATGT ATATATGCATATATGTACATATGTACATATATACATATGTATATATGCAT ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT ATACATATGTATATATGCATATATGTACATATGTACATATGTATATATAC ATATATGTACATATGTACATATGTACATATACATATATGTACATATG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0131 a0001c0001t0031g0131	1	155	0.0065	396	c.173 others(415): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TATACATATGTATATATGCATATATGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATGTATATATACATATATGTACATATGTACATATGTACATA TACATATATGTACATATGTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(389): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATATAAAATATATATATTATATAA TATATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATGTAATATT ATATATAATATATATATTATATATATTATATATTATATATATTATATATA TTATATATAATATATATTATATATTATATATATTATATATATTATATATA ATATATTATATATAATATATATAATATATATAATATATATATTATATATA ATATATATAATATATATAAAAAATATATATATTATATAATATATATA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18965.hp1 NA18980.hp1 NA18941.hp1 NA18965.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0138 a0001c0002t0005g0044 a0001c0002t0005g0051 a0001c0001t0002g0138 a0001c0002t0005g0044 a0001c0002t0005g0051	3	27	0.1111	396	c.151 others(415): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATATAAAATATATATATTATATAATA TATATATAAAATATATATATTATATAATATATATATAAAATATATATATT ATATAATATATATATAAAATATATATATTATATAATATATGTAATATTAT ATATAATATATATATTATATATATTATATATTATATATATTATATATATT ATATATAATATATATTATATATTATATATATTATATATATTATATATAAT ATATTATATATAATATATATAATATATATAATATATATATTATATATAAT ATATATAATATATATAAAAAATATATATATTATATAATATATATAATATA TATATTATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMYD3_chr1_245744347_246512279	246325127	G G	GGGGGGCA others(389): Show GGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGA GGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCA GGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGG GGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGG AGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGG GAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGG AAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0060 a0001c0006t0001g0060	1	72	0.0139	396	c.531 others(413): Show c.531+2073_531+2074insGACTCCTTCTCCCTCCTTCCTGCCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCG ACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCG CCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTC CTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTC TCCCTCCTTCCTGCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1168021	A A	AGCCGCCC others(389): Show AGCCGCCCACAGACGGCAGAACTGAAGCCTACAAGCCGCCCACAGACGGC AGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAA GCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCA GAACTGAAGCCTACAAGCCGCCCACAGACGGCAGAACTGAAGCCTACAGG CCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAG AACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGC CGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGA ACTGAAGCCTACAAGCCGCCCACAGACGGCAGAACTGAAGCCTACAG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02165.hp2 NA19000.hp1 HG01517.hp1 HG02165.hp2 NA19000.hp1	a0003 a0014 a0003 a0014	a0003c0007 a0003c0008 a0014c0032 a0003c0007 a0003c0008 a0014c0032	a0003c0007t0001 a0003c0008t0001 a0014c0032t0001 a0003c0007t0001 a0003c0008t0001 a0014c0032t0001	a0003c0007t0001g0060 a0003c0008t0001g0190 a0014c0032t0001g0062 a0003c0007t0001g0060 a0003c0008t0001g0190 a0014c0032t0001g0062	3	177	0.0169	396	c.499 others(413): Show c.499+2411_499+2412insGCCTACAAGCCGCCCACAGACGGCAGAA CTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCG CCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAAC TGAAGCCTACAAGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGC CCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACT GAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCC CACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTG AAGCCTACAAGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCC ACAGACGGCAGAACTGAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1168021	A A	AGCCGCCC others(389): Show AGCCGCCCACAGACGGCAGAACTGAAGCCTACAAGCCGCCCACAGACGGC AGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAA GCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCA GAACTGAAGCCTACAAGCCGCCCACAGACGGCAGAACTGAAGCCTACAGG CCGCCCACAGACGGCAGAACTGAAGCCTATAGGCCGCCCACAGACGGCAG AACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGC CGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGA ACTGAAGCCTACAAGCCGCCCACAGACGGCAGAACTGAAGCCTACAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp1 HG03453.hp2 others(2): Show HG02895.hp1 HG02965.hp1 HG03453.hp2 HG03486.hp1 NA20129.hp1	a0001 a0017 a0001 a0017	a0001c0002 a0017c0036 a0001c0002 a0017c0036	a0001c0002t0001 a0001c0002t0002 a0017c0036t0001 a0001c0002t0001 a0001c0002t0002 a0017c0036t0001	a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0141 others(2): Show a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0141 a0001c0002t0002g0002 a0017c0036t0001g0070	5	179	0.0279	396	c.499 others(413): Show c.499+2411_499+2412insGCCTACAAGCCGCCCACAGACGGCAGAA CTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCG CCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAAC TGAAGCCTACAAGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGC CCACAGACGGCAGAACTGAAGCCTATAGGCCGCCCACAGACGGCAGAACT GAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCC CACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTG AAGCCTACAAGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCC ACAGACGGCAGAACTGAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(389): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	66	0.0152	396	c.548 others(415): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATAATGA others(389): Show CATAATGATATATAATATATATCATTATATAACATAATGATATATAATAT ATATCATTATATAACATAATGATATATAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATAATGATATATAATATATAT CATTATATAACATAATGATATATAATATATATCATTATATAACATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0143 a0001c0006t0007g0143	1	111	0.0090	396	c.-11 others(417): Show c.-112+29099_-112+29100insTAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATAATGATATATAATATATAT CATTATATAACATAATGATATATAATATATATCATTATATAACATAATGA TATATAATATATATCATTATATAACATAATGATATATAATATATATCATT ATATAACATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190169	T T	TATCATTA others(389): Show TATCATTATATAACATATAATGATATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATATAACATATGATATATAATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0006 a0001c0018t0006	a0001c0018t0006g0243 a0001c0018t0006g0243	1	316	0.0032	396	c.-11 others(417): Show c.-112+29237_-112+29238insATCATTATATAACATATAATGATA TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATCATTATATAACATATAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT ATAACATATGATATATAATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPATA6_chr1_48290373_48477204	48384421	A A	AGAGGGAG others(389): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0161 a0001c0001t0013g0161	1	312	0.0032	396	c.909 others(411): Show c.909+887_909+888insCCCCTCCCCCTCCCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(389): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGTG GGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGCACGGGGGAGGGGGAAGCGGGAACGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGG GGGAGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGA GGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGG AACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	12	0.0833	396	c.34 others(405): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCGTGCCCGCTTCCCC CTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCC CCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(389): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGA GGGGGGGGGGAGGGGGGAGGGGGGGGGAGGGGGAGGGGGAGGGGGGGAGG GGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGGGGAGGGCGAGGGGGAGGGGGGGGGAGGGGAGGGGAGGG GAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGGAGGGG AGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0208	1	6	0.1667	396	c.138 others(415): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCCC TCGCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCCTCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCC CCCTCCCCCCTCCCCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(389): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGG GGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGGG AGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGG AGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0205 a0002c0002t0002g0205	1	6	0.1667	396	c.138 others(415): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCC TCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCC CCCCCTCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(389): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGG GGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGG GGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGG AGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGG AGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	6	0.1667	396	c.138 others(415): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCT CCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCC CCCCCTCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882566	G G	GGAAAGGA others(389): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGAGGGGGGGGGAAGAAGGGGAGGGGAAGAAGGGGA AGGGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAAGGG AACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAGGAA AGGGAAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGGAAG AGGGGGAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGAGA AGAAGGGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGA AGGGAAGGGAAGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03041.hp2 HG02976.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0112 a0001c0001t0001g0012 a0001c0001t0001g0112	2	15	0.1333	396	c.40 others(407): Show c.4032_*4033insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCT CCTTCCCTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCT TCCCTTCCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCT CTTCCCTCCCCCTCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCT CGCCCTCTTCCCTTTCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTT TCCTTCCCTTGTTCCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCT TCCCTTCTTCCCTTCCCCTTCTTCCCCTCCCCTTCTTCCCCCCCCCTCCC CTTCCCTCCCCTCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCC TTCTTTCCTTTC	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2754		chr9	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882566	G G	GGAAAGGA others(389): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGAGGGGGGGGGAAGAAGGGGAGGGGAAGAAGGGGA AGGGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAAGGG AACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAGGGA AGGGAAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGGAAG AGGGGGAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGAGA AGAAGGGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGA AGGGAAGGGAAGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01978.hp2 HG01993.hp1 others(9): Show HG01192.hp2 HG01978.hp2 HG01993.hp1 HG02698.hp2 HG02895.hp2 HG02897.hp1 HG03490.hp2 HG03704.hp2 HG04199.hp1 HG04199.hp2 NA19062.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0027 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0143 a0001c0001t0001g0167 a0001c0001t0001g0171	12	25	0.4800	396	c.40 others(407): Show c.4032_*4033insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCT CCTTCCCTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCT TCCCTTCCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCT CTTCCCTCCCCCTCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCT CGCCCTCTTCCCTTCCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTT TCCTTCCCTTGTTCCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCT TCCCTTCTTCCCTTCCCCTTCTTCCCCTCCCCTTCTTCCCCCCCCCTCCC CTTCCCTCCCCTCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCC TTCTTTCCTTTC	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2754		chr9	TogoVar
SUCO_chr1_172528150_172616833	172571922	A A	AGGGAGGT others(389): Show AGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGA GGTGGGGGGGTCAGCCCCCGGCCCGGCCAGCCGCCCCGTCTGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCC CGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCCTCTGGGA AGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCGGG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	81	0.0123	396	c.104 others(415): Show c.1049+1192_1049+1193insGGGAGGTGGGGGTCAGCCCCCGCCAG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGGC CAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCCTCTGGGAAGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCACCCCATCGGG	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23			chr1	TogoVar
SUCO_chr1_172528150_172616833	172571922	A A	AGGGAGGT others(389): Show AGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCGGCCCGGCCAGCCGCCCCGTCTGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCC CGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCCTCTGGGA AGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(109): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02027.hp2 HG02056.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02886.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG04115.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18980.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0009 a0011	a0001c0001 a0001c0014 a0004c0013 others(3): Show a0001c0001 a0001c0014 a0004c0013 a0005c0010 a0009c0009 a0011c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0014t0001 a0004c0013t0001 a0005c0010t0001 a0009c0009t0001 a0011c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 others(91): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0003g0059 a0001c0001t0003g0100 a0001c0001t0013g0003 a0001c0014t0001g0183 a0004c0013t0001g0131 a0005c0010t0001g0206 a0009c0009t0001g0190 a0011c0011t0001g0154	112	192	0.5833	396	c.104 others(415): Show c.1049+1192_1049+1193insGGGAGGTGGGGGTCAGCCCCCGCCAG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGGC CAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCCTCTGGGAAGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCACCCCATCGGG	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(389): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAG AGAGGGGGAGGGAGGGGGGAGAGAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01257.hp2 HG02273.hp2 others(1): Show HG01168.hp1 HG01257.hp2 HG02273.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0003 a0001c0003t0005	a0001c0003t0003g0020 a0001c0003t0003g0022 a0001c0003t0003g0023 others(1): Show a0001c0003t0003g0020 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0005g0021	4	173	0.0231	396	c.-18 others(415): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCCTCTCC CCCCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCTCCCTCCC TCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCT CCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTC TCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(389): Show AGAGGGAGGGGGGGAGGGGGAGAGAGGAGGGGAGGGGGAGAGAGAGGGGA GGGGGAGAGAGTTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGAGGGAGGGGGAGAGAGGGGAGGGGGGG AGAGAGGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAGA GGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGA GAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGGGGAG AGAGAGGGGGGAGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGA GAGGGGGGGGAGAGGGGGGAGAGAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0024 a0001c0001t0007g0024	1	170	0.0059	396	c.-18 others(415): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCTCCCCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTC CCCCCCTCCTCCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCCTCTC CCCCCTCCCTCCCCCCTCTCTCCCCCCCTCCCCTCTCTCCCCCTCCCTCC TCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCT CCCTCCCCAACTCTCTCCCCCTCCCCTCTCTCTCCCCCTCCCCTCCTCTC TCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(389): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC AGGGAAAGGAGGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGG AGGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGG GGGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGC GTGGGGGGGGAGGGAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGG GAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGGCG GCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	72	0.0139	396	c.309 others(415): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCCTCCCTCCTCCCGCCGCCCCCT CCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCCCCC ACACCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCGCCGCCCCCTCCC TCCCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCCCCCCATGCC CTCCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCTCCCTCCCCC CACCACCCCCCTCCTTTCCCTGCCGTCTCCTCCTTCCCCCCACCACAACC TCCCTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCCCCTGCCAC CCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(389): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC AGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGAGGGAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGGG AGGGGGCGGCGGGAGGAGGGAGGGGGGCGGCGGGAGGAGGGAGGGGGCGG CGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGCGGCGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0187 a0001c0004t0001g0187	1	72	0.0139	396	c.309 others(415): Show c.3091-8707_3091-8706insCTCCCCCCCGCCGCCCCCTCCCTCCC CCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCC TCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCCCC CACACCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCGCCGCCCCCTCC CTCCCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCCCCCCATGC CCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCTCCCTCCCC CCACCACCCCCTCCTTTCCCTGCCGTCTCCTCCTTCCCCCCACCACAACC TCCCTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCCCCTGCCAC CCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(389): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC AGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGGAGGGAGGGTGTGGGGGGAGGGAGGGGGGCGGCGGGAGGAG GGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGCG GCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	72	0.0139	396	c.309 others(415): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCCTCCCTCCCCCC ACACCCTCCCTCCCCCCCCCACGCCCTCCCTCCCCCCCGCCGCCCCCTCC CTCCCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCCCCCCATGC CCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCTCCCTCCCC CCACCACCCCCTCCTTTCCCTGCCGTCTCCTCCTTCCCCCCACCACAACC TCCCTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCCCCTGCCAC CCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar

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